• Gene id: 79746

Gene Summary

• Gene Symbol: ECHDC3   Gene   UCSC   Ensembl
• Gene name: enoyl-CoA hydratase domain containing 3
• Alternate names: enoyl-CoA hydratase domain-containing protein 3, mitochondrial, enoyl Coenzyme A hydratase domain containing 3, testis tissue sperm-binding protein Li 76m,
• Gene location: 10p14 (11742381: 11764069)     Exons: 5     NC_000010.11

Protein Summary

• Protein general information: Q96DC8  
  • Name: Enoyl CoA hydratase domain containing protein 3, mitochondrial
  • Length: 303  
  • Mass: 32634
  • Tissue specificity: Expressed in adipocytes (PubMed
• Sequence:

  MAAVAVLRAFGASGPMCLRRGPWAQLPARFCSRDPAGAGRRESEPRPTSARQLDGIRNIVLSNPKKRNALSLAML
  KSLQSDILHDADSNDLKVIIISAEGPVFSSGHDLKELTEEQGRDYHAEVFQTCSKVMMHIRNHPVPVIAMVNGLA
  AAAGCQLVASCDIAVASDKSSFATPGVNVGLFCSTPGVALARAVPRKVALEMLFTGEPISAQEALLHGLLSKVVP
  EAELQEETMRIARKIASLSRPVVSLGKATFYKQLPQDLGTAYYLTSQAMVDNLALRDGQEGITAFLQKRKPVWSH
  EPV

• Structural information:
  • Interpro: IPR029045  IPR001753  IPR014748  
  • PDB: 2VX2
  • PDBsum: 2VX2
  • STRING: ENSP00000368517
• Other Databases: GeneCards:  ECHDC3  Malacards:  ECHDC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003824	catalytic activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq